title: [Clinical and pathological features and prognosis of Chinese patients with distal myopathy with rimmed vacuoles: study of 17 cases].
abstract: OBJECTIVE
  To clarify the clinical and pathological features and prognosis of Chinese patients with distal myopathy with rimmed vacuoles (DMRV).
  
  
  METHODS
  The clinical data of 17 Chinese DMRV patients with the courses of disease of 1-21 years, 5 males and 12 females, aged 28.9 (19-41), were collected. Biopsy of muscle specimens of 17 Chinese DMRV patients were summarized retrospectively. Muscle specimens were collected from the biceps brachii, tibialis anterior, gastrocnemius, or quadriceps femoris and underwent light microscopy. Eight muscle specimens underwent electron microscopy. 11 patients were followed up for 4 months to 15 years.
  
  
  RESULTS
  The age of onset ranged from 5 to 40 years (averaging 23 years). Distal muscle weakness and atrophy of the lower extremities, especially anterior tibial muscle, was predominant in the early stage. Proximal and trunk muscles were involved in the advanced stage. Quadriceps femoris were slightly involved. The striking and characteristic pathological finding was the presence of rimmed vacuoles in atrophic muscle fibers with little evidence of necrotic or regenerative processes. Electron microscopy showed accumulation of myeloid structure and cytoplasmic or intranuclear tubofilamentous inclusion bodies. Although atrophy and weakness of the leg muscle appeared as initial symptoms, severe generalized skeletal muscle involvement with sparing of the facial, extraocular, bulbar, intercostals, and diaphragm muscles was recognized in the advanced stage. The patients became non-ambulant about 7-10 years after the onset of the disease. They lost the self-care ability and the quality of their life was rather low.
  
  
  CONCLUSIONS
  The clinical and pathological features of the Chinese DMRV patients are basically similar to those of the Japanese patients. With the disease progressing slowly, the patients become wheelchair-bound and lose the self-care ability. As to daily life, the prognosis of DMRV is extremely poor.
authors.affiliation: Department of Neurology, Qilu Hospital, Medical School of Shandong University, Jinan 250012, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Chen
authors.forename: Chuan-zhu
authors.initials: CZ
authors.lastname: Yan
authors.forename: Shu-ping
authors.initials: SP
authors.lastname: Liu
authors.forename: Yu-ying
authors.initials: YY
authors.lastname: Zhao
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.forename: Jin-ling
authors.initials: JL
authors.lastname: Wu
authors.forename: Da-nian
authors.initials: DN
authors.lastname: Li
mesh_terms: D000328:Adult; D002681:China; D049310:Distal Myopathies / Q000473:pathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D011379:Prognosis; D012189:Retrospective Studies; D014617:Vacuoles / Q000473:pathology* / Q000648:ultrastructure; D055815:Young Adult